#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CFAP45	25790	broad.mit.edu	37	1	159842908	159842908	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:159842908G>A	ENST00000368099.4	-	11	1467	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	CCDC19_ENST00000426543.2_Missense_Mutation_p.A383V|RP11-190A12.7_ENST00000544342.1_5'Flank|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCCCTGTGGCCTTTTTCTC	0.602																																						uc001fui.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(1402-1404)gCc>gTc		Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.							59.0	56.0	57.0					1																	159842908		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159842908G>A																												ENST00000368099.4:c.1403C>T	1.37:g.159842908G>A	ENSP00000357079:p.Ala468Val					CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.A383V|CCDC19_uc001fuj.3_Non-coding_Transcript	p.A468V	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		10	1421	-	all_hematologic(112;0.0597)		468						Missense_Mutation	SNP	ENST00000368099.4	37	c.1403C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	7.187	0.590715	0.13812	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.09911	2.93;2.93	5.26	3.28	0.37604	.	0.601844	0.18527	N	0.138585	T	0.02848	0.0085	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.38394	-0.9663	9	.	.	.	-3.8175	4.6071	0.12383	0.088:0.1491:0.61:0.1529	.	468	Q9UL16	CCD19_HUMAN	V	468;383	ENSP00000357079:A468V;ENSP00000403044:A383V	.	A	-	2	0	CCDC19	158109532	0.004000	0.15560	0.075000	0.20258	0.334000	0.28698	0.680000	0.25306	1.346000	0.45694	0.655000	0.94253	GCC		0.602	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			25	49	0	0	0	1	0	25	49				
GPR56	9289	broad.mit.edu	37	16	57695714	57695714	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr16:57695714C>T	ENST00000388812.4	+	13	2228	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	GPR56_ENST00000544297.1_Silent_p.I415I|GPR56_ENST00000379694.4_Silent_p.I426I|GPR56_ENST00000540164.2_Silent_p.I590I|GPR56_ENST00000568908.1_Silent_p.I590I|GPR56_ENST00000538815.1_Silent_p.I590I|GPR56_ENST00000388813.5_Silent_p.I590I|GPR56_ENST00000567835.1_Silent_p.I596I|GPR56_ENST00000562558.1_Silent_p.I590I|GPR56_ENST00000568909.1_Silent_p.I596I|GPR56_ENST00000562631.1_Silent_p.I590I|GPR56_ENST00000456916.1_Silent_p.I596I|GPR56_ENST00000379696.3_Silent_p.I596I			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	596					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGCAGATCCTGCGGCTGC	0.602																																						uc002emb.2																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1786-1788)atC>atT		Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.							130.0	110.0	117.0					16																	57695714		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57695714C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1788C>T	16.37:g.57695714C>T						GPR56_uc002ema.1_Silent_p.I421I|GPR56_uc002emc.2_Silent_p.I590I|GPR56_uc002emf.2_Silent_p.I590I|GPR56_uc010vhs.1_Silent_p.I596I|GPR56_uc002emd.2_Silent_p.I590I|GPR56_uc002eme.2_Silent_p.I590I|GPR56_uc010vht.1_Silent_p.I595I|GPR56_uc002emg.3_Silent_p.I590I|GPR56_uc010vhu.1_Silent_p.I415I	p.I596I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			13	2080	+			596					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1788C>T	CCDS32460.1																																																																																				0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			4	118	0	0	0	1	0	4	118				
EVI5L	115704	broad.mit.edu	37	19	7914210	7914210	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:7914210C>A	ENST00000270530.4	+	5	817	c.621C>A	c.(619-621)ctC>ctA	p.L207L	EVI5L_ENST00000538904.2_Silent_p.L207L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	207	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCCTGCTCCTCATGCAGGTAG	0.647																																						uc010xjz.2																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(619-621)ctC>ctA		Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.							53.0	49.0	50.0					19																	7914210		2203	4300	6503	SO:0001819	synonymous_variant	115704					intracellular	Rab GTPase activator activity|protein binding	g.chr19:7914210C>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.621C>A	19.37:g.7914210C>A						EVI5L_uc002min.3_Silent_p.L207L|EVI5L_uc002mio.1_5'Flank	p.L207L	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN			3	668	+			207			Rab-GAP TBC.		B9A6I9	Silent	SNP	ENST00000270530.4	37	c.621C>A	CCDS12188.1																																																																																				0.647	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		4	88	0	0	0	1	0	4	88				
ZNF28	7576	broad.mit.edu	37	19	53304746	53304746	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304746C>G	ENST00000457749.2	-	4	471	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	ZNF28_ENST00000438150.2_Missense_Mutation_p.E65Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E65Q|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.E65Q|ZNF28_ENST00000339844.6_3'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E65*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGTCAACTCTTTGATTTCT	0.403																																						uc002qad.3																			1	Substitution - Nonsense(1)	p.E65*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(352-354)Gag>Cag		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							279.0	259.0	266.0					19																	53304746		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304746C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.352G>C	19.37:g.53304746C>G	ENSP00000397693:p.Glu118Gln					ZNF28_uc002qac.3_Missense_Mutation_p.E64Q|ZNF28_uc010eqe.3_Missense_Mutation_p.E64Q|ZNF28_uc021uza.1_Missense_Mutation_p.E65Q	p.E118Q	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	509	-			118					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.352G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.899	-0.722846	0.03158	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783;ENST00000339844	T;T;T;T;T	0.08282	3.11;3.2;3.11;3.11;3.15	1.81	0.681	0.17986	.	.	.	.	.	T	0.06872	0.0175	L	0.40543	1.245	0.09310	N	1	B	0.18310	0.027	B	0.12156	0.007	T	0.36625	-0.9740	9	0.87932	D	0	.	3.6643	0.08250	0.0:0.2246:0.0:0.7754	.	118	P17035	ZNF28_HUMAN	Q	65;118;65;65;65;6	ENSP00000412143:E65Q;ENSP00000397693:E118Q;ENSP00000353410:E65Q;ENSP00000444965:E65Q;ENSP00000375661:E65Q	ENSP00000344777:E6Q	E	-	1	0	ZNF28	57996558	0.000000	0.05858	0.012000	0.15200	0.032000	0.12392	0.105000	0.15333	-0.001000	0.14495	-0.849000	0.03036	GAG		0.403	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		15	459	0	0	0	1	0	15	459				
GHR	2690	broad.mit.edu	37	5	42718766	42718766	+	Missense_Mutation	SNP	G	G	A	rs180778998	byFrequency	TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:42718766G>A	ENST00000230882.4	+	10	1347	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	GHR_ENST00000357703.3_Missense_Mutation_p.R364H|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.R199H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	386					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GACTCTGGACGTACCAGCTGT	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		19814	0.001		0.0	False		,,,				2504	0.001					uc021xxv.1																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1177-1179)cGt>cAt		Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						151.0	117.0	129.0					5																	42718766		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718766G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1157G>A	5.37:g.42718766G>A	ENSP00000230882:p.Arg386His					GHR_uc003jmt.3_Missense_Mutation_p.R386H|GHR_uc003jmu.3_Missense_Mutation_p.R386H|GHR_uc003jmv.2_Missense_Mutation_p.R386H|GHR_uc021xxw.1_Missense_Mutation_p.R386H|GHR_uc021xxx.1_Missense_Mutation_p.R386H|GHR_uc021xxy.1_Missense_Mutation_p.R386H|GHR_uc021xxz.1_Missense_Mutation_p.R386H|GHR_uc021xya.1_Missense_Mutation_p.R386H|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.R199H|GHR_uc021xyd.1_Missense_Mutation_p.R364H	p.R393H	NM_001242399	NP_001229328	P10912	GHR_HUMAN			9	1315	+		Myeloproliferative disorder(839;0.00878)	386					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1178G>A	CCDS3940.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.60	3.858190	0.71834	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.46819	0.86;0.86;0.86	5.86	5.0	0.66597	.	0.139321	0.64402	N	0.000002	T	0.65790	0.2725	M	0.91663	3.23	0.80722	D	1	P	0.52170	0.951	P	0.49085	0.6	T	0.76214	-0.3041	10	0.87932	D	0	-7.4586	15.0984	0.72253	0.0681:0.0:0.9319:0.0	.	386	P10912	GHR_HUMAN	H	386;364;199	ENSP00000230882:R386H;ENSP00000350335:R364H;ENSP00000442206:R199H	ENSP00000230882:R386H	R	+	2	0	GHR	42754523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.666000	0.74446	1.494000	0.48533	0.591000	0.81541	CGT		0.473	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		6	169	0	0	0	1	0	6	169				
PARP12	64761	broad.mit.edu	37	7	139757774	139757774	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:139757774A>G	ENST00000263549.3	-	2	1260	c.387T>C	c.(385-387)acT>acC	p.T129T		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	129						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAACGCCATGAGTTCTCAGCA	0.483																																						uc003vvl.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(385-387)acT>acC		Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.							216.0	172.0	187.0					7																	139757774		2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139757774A>G	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.387T>C	7.37:g.139757774A>G						PARP12_uc010lnf.1_Non-coding_Transcript	p.T129T	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			1	1261	-	Melanoma(164;0.0142)		129					Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.387T>C	CCDS5857.1																																																																																				0.483	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		3	170	0	0	0	1	0	3	170				
MUC16	94025	broad.mit.edu	37	19	9011326	9011326	+	Silent	SNP	G	G	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:9011326G>C	ENST00000397910.4	-	36	39110	c.38907C>G	c.(38905-38907)gtC>gtG	p.V12969V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12971	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCACCATTGACATAGAGAC	0.537																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38905-38907)gtC>gtG		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							204.0	176.0	185.0					19																	9011326		1988	4188	6176	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011326G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38907C>G	19.37:g.9011326G>C						MUC16_uc021uog.1_Intron	p.V12969V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			35	39111	-			12971			SEA 6.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38907C>G	CCDS54212.1																																																																																				0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	283	0	0	0	1	0	9	283				
UNG	7374	broad.mit.edu	37	12	109536206	109536206	+	Silent	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:109536206C>G	ENST00000336865.2	+	1	284	c.75C>G	c.(73-75)ctC>ctG	p.L25L	UNG_ENST00000242576.2_Intron	NM_003362.3	NP_003353.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CGCTGCAGCTCTTGAGCCGCC	0.697								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													uc001toa.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(73-75)ctC>ctG	Base excision repair (BER), DNA glycosylases	Homo sapiens uracil-DNA glycosylase (UNG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							20.0	23.0	22.0					12																	109536206		2194	4265	6459	SO:0001819	synonymous_variant	7374	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109536206C>G	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000336865.2:c.75C>G	12.37:g.109536206C>G						UNG_uc001tnz.2_Intron	p.L25L	NM_003362	NP_003353	P13051	UNG_HUMAN			0	284	+			0						Silent	SNP	ENST00000336865.2	37	c.75C>G	CCDS9125.1																																																																																				0.697	UNG-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000403069.1	NM_080911		5	67	0	0	0	1	0	5	67				
PIGO	84720	broad.mit.edu	37	9	35092632	35092632	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:35092632C>T	ENST00000378617.3	-	7	1646	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	PIGO_ENST00000341666.3_Missense_Mutation_p.E418K|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Missense_Mutation_p.E418K|PIGO_ENST00000361778.2_Missense_Mutation_p.E418K	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	418					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGTCGCCTCAGCCCCCTTG	0.587																																						uc003zwd.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1252-1254)Gag>Aag		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.							52.0	58.0	56.0					9																	35092632		2188	4281	6469	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092632C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1252G>A	9.37:g.35092632C>T	ENSP00000367880:p.Glu418Lys					PIGO_uc003zwe.3_Missense_Mutation_p.E418K|PIGO_uc003zwf.3_Missense_Mutation_p.E418K|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR	p.E418K	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	1648	-			418					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1252G>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568625	0.13560	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.53;0.49;0.49;0.53	5.38	5.38	0.77491	.	0.448691	0.24078	N	0.041743	T	0.48169	0.1485	M	0.61703	1.905	0.24242	N	0.995352	B;B	0.21452	0.007;0.056	B;B	0.15484	0.003;0.013	T	0.30297	-0.9983	10	0.18276	T	0.48	-25.6264	13.6251	0.62159	0.0:0.9238:0.0:0.0762	.	418;418	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	K	418	ENSP00000298004:E418K;ENSP00000367880:E418K;ENSP00000339382:E418K;ENSP00000354678:E418K	ENSP00000298004:E418K	E	-	1	0	PIGO	35082632	0.935000	0.31712	0.667000	0.29798	0.181000	0.23173	2.821000	0.48065	2.813000	0.96785	0.655000	0.94253	GAG		0.587	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		17	67	0	0	0	1	0	17	67				
DPM1	8813	broad.mit.edu	37	20	49575532	49575532	+	5'Flank	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr20:49575532G>A	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_Silent_p.P51P	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGCTGCCGCCGAAGGCCGCTC	0.652																																						uc002xvy.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(151-153)ccG>ccA		Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.							35.0	42.0	40.0					20																	49575532		2192	4281	6473	SO:0001631	upstream_gene_variant	27304				Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity	g.chr20:49575532G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575532G>A	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.P51P	NM_014484	NP_055299	O95396	MOCS3_HUMAN			0	170	+			51					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.153G>A	CCDS13434.1																																																																																				0.652	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		4	89	0	0	0	1	0	4	89				
CBLN3	643866	broad.mit.edu	37	14	24897090	24897090	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:24897090G>A	ENST00000267406.6	-	3	993	c.523C>T	c.(523-525)Cct>Tct	p.P175S	KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000556842.1_5'Flank|CBLN3_ENST00000555436.1_Missense_Mutation_p.P124S|KHNYN_ENST00000553935.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	175	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGGTCCCCAGGGTCCAAGGGC	0.587																																						uc001wpg.4																			0				central_nervous_system(1)|lung(3)	4						c.(523-525)Cct>Tct		Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.							108.0	111.0	110.0					14																	24897090		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897090G>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.523C>T	14.37:g.24897090G>A	ENSP00000267406:p.Pro175Ser					KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	p.P175S	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	2	994	-			175			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Missense_Mutation	SNP	ENST00000267406.6	37	c.523C>T	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157515	0.57368	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.74526	-0.85;-0.85	5.62	4.72	0.59763	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.49916	D	0.000135	T	0.64864	0.2637	N	0.24115	0.695	0.33425	D	0.580397	P	0.38551	0.636	P	0.46452	0.517	T	0.66019	-0.6027	10	0.08599	T	0.76	-11.4589	11.5084	0.50481	0.0:0.0:0.6737:0.3263	.	175	Q6UW01	CBLN3_HUMAN	S	175;124	ENSP00000267406:P175S;ENSP00000450935:P124S	ENSP00000267406:P175S	P	-	1	0	CBLN3	23966930	0.998000	0.40836	0.983000	0.44433	0.987000	0.75469	1.755000	0.38379	1.352000	0.45808	0.561000	0.74099	CCT		0.587	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		7	196	0	0	0	1	0	7	196				
LUC7L3	51747	broad.mit.edu	37	17	48823271	48823271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:48823271C>A	ENST00000505658.1	+	8	1073	c.884C>A	c.(883-885)tCa>tAa	p.S295*	LUC7L3_ENST00000544170.1_Nonsense_Mutation_p.S219*|LUC7L3_ENST00000393227.2_Nonsense_Mutation_p.S295*|LUC7L3_ENST00000240304.1_Nonsense_Mutation_p.S295*			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	295	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGAAGTCGTTCACGAAGTAGA	0.458																																						uc002isq.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(883-885)tCa>tAa		Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.							64.0	63.0	63.0					17																	48823271		2203	4300	6503	SO:0001587	stop_gained	51747				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48823271C>A		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.884C>A	17.37:g.48823271C>A	ENSP00000425092:p.Ser295*					LUC7L3_uc010wmw.2_Nonsense_Mutation_p.S219*|LUC7L3_uc002isr.3_Nonsense_Mutation_p.S295*|LUC7L3_uc002iss.3_Nonsense_Mutation_p.S295*	p.S295*	NM_016424	NP_057508	O95232	LC7L3_HUMAN			7	1052	+			295			Arg/Ser-rich.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Nonsense_Mutation	SNP	ENST00000505658.1	37	c.884C>A	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	C	38	6.727933	0.97792	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.499	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	295;295;295;219	.	ENSP00000240304:S295X	S	+	2	0	LUC7L3	46178270	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.604000	0.74150	2.824000	0.97209	0.655000	0.94253	TCA		0.458	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		6	17	0	0	0	1	0	6	17				
DENND5B	160518	broad.mit.edu	37	12	31605154	31605154	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:31605154C>T	ENST00000389082.5	-	5	1613	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	DENND5B_ENST00000306833.6_Missense_Mutation_p.G485D|DENND5B_ENST00000536562.1_Missense_Mutation_p.G485D|DENND5B_ENST00000354285.4_Missense_Mutation_p.G472D|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	450					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTTTCATTGCCCTTCAGTAA	0.448																																						uc001rkh.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1453-1455)gGc>gAc		Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.							176.0	173.0	174.0					12																	31605154		1940	4140	6080	SO:0001583	missense	160518					integral to membrane		g.chr12:31605154C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1349G>A	12.37:g.31605154C>T	ENSP00000373734:p.Gly450Asp					DENND5B_uc001rki.1_Missense_Mutation_p.G450D|DENND5B_uc001rkj.3_Missense_Mutation_p.G472D|DENND5B_uc001rkk.1_Missense_Mutation_p.G372D	p.G485D	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			6	1605	-			450					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1454G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525367	0.44969	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.54323	1.7	0.58432	D	0.999999	B;P;B;B	0.37061	0.321;0.58;0.215;0.321	B;B;B;B	0.38755	0.138;0.281;0.065;0.138	T	0.35375	-0.9791	10	0.13853	T	0.58	-22.9198	17.7861	0.88538	0.0:1.0:0.0:0.0	.	372;472;450;485	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	D	450;485;485;472;402	ENSP00000373734:G450D;ENSP00000306482:G485D;ENSP00000444889:G485D;ENSP00000346238:G472D;ENSP00000442938:G402D	ENSP00000306482:G485D	G	-	2	0	DENND5B	31496421	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	1.157000	0.31724	2.421000	0.82119	0.563000	0.77884	GGC		0.448	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	315	0	0	0	1	0	7	315				
OR13F1	138805	broad.mit.edu	37	9	107266544	107266544	+	Start_Codon_SNP	SNP	A	A	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:107266544A>G	ENST00000334726.2	+	1	90	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACATAAAAAAATGTTCCCGGC	0.368																																						uc011lvm.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.e1-1		Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.							55.0	56.0	56.0					9																	107266544		2203	4300	6503	SO:0001582	initiator_codon_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266544A>G		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.1A>G	9.37:g.107266544A>G	ENSP00000334452:p.Met1Val						p.M1_splice	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	1	+			1					Q6IF50	Splice_Site	SNP	ENST00000334726.2	37	c.1_splice	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	A	8.962	0.970739	0.18659	.	.	ENSG00000186881	ENST00000334726	T	0.39592	1.07	3.91	1.54	0.23209	.	0.216747	0.31784	N	0.007072	T	0.58595	0.2133	.	.	.	0.80722	D	1	D	0.61080	0.989	D	0.72338	0.977	T	0.57539	-0.7794	9	0.87932	D	0	.	7.0241	0.24930	0.7996:0.0:0.2004:0.0	.	1	Q8NGS4	O13F1_HUMAN	V	1	ENSP00000334452:M1V	ENSP00000334452:M1V	M	+	1	0	OR13F1	106306365	1.000000	0.71417	0.830000	0.32933	0.032000	0.12392	1.976000	0.40579	0.328000	0.23435	0.529000	0.55759	ATG		0.368	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1		Missense_Mutation	10	90	0	0	0	1	0	10	90				
ZNF146	7705	broad.mit.edu	37	19	36727354	36727354	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:36727354C>T	ENST00000443387.2	+	4	1004	c.12C>T	c.(10-12)ctC>ctT	p.L4L	ZNF146_ENST00000456324.1_Silent_p.L4L|ZNF565_ENST00000355114.5_Intron	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	4					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGTCACACCTCAGCCAGCAGA	0.418																																						uc002odq.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(10-12)ctC>ctT		Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.							42.0	43.0	43.0					19																	36727354		2203	4300	6503	SO:0001819	synonymous_variant	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727354C>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.12C>T	19.37:g.36727354C>T						ZNF146_uc010eet.3_Silent_p.L4L|ZNF146_uc010eeu.3_Silent_p.L4L|ZNF146_uc021ute.1_Silent_p.L4L	p.L4L	NM_007145	NP_009076	Q15072	OZF_HUMAN			3	1535	+	Esophageal squamous(110;0.162)		4					Q2TB94	Silent	SNP	ENST00000443387.2	37	c.12C>T	CCDS12492.1																																																																																				0.418	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		4	69	0	0	0	1	0	4	69				
PTGES2	80142	broad.mit.edu	37	9	130885238	130885238	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:130885238G>C	ENST00000338961.6	-	5	1606	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V	PTGES2_ENST00000483625.1_5'Flank|PTGES2_ENST00000277462.5_Missense_Mutation_p.L97V	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	288	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						TTGCTGATGAGGTACATGGCC	0.627																																						uc004bti.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(862-864)Ctc>Gtc		Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.							117.0	93.0	101.0					9																	130885238		2203	4300	6503	SO:0001583	missense	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130885238G>C	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.862C>G	9.37:g.130885238G>C	ENSP00000345341:p.Leu288Val					PTGES2_uc004btk.3_Missense_Mutation_p.L97V|PTGES2_uc004btl.3_Missense_Mutation_p.L97V	p.L288V	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN			4	1340	-			288			GST C-terminal.		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	37	c.862C>G	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768380	0.31320	.	.	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.45668	0.96;0.96;0.89	5.42	-6.25	0.02039	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.672579	0.15519	N	0.258125	T	0.17959	0.0431	N	0.19112	0.55	0.27388	N	0.955231	B	0.02656	0.0	B	0.04013	0.001	T	0.07233	-1.0783	10	0.33141	T	0.24	-14.5339	3.6901	0.08343	0.5629:0.0909:0.1749:0.1712	.	288	Q9H7Z7	PGES2_HUMAN	V	288;97;253	ENSP00000345341:L288V;ENSP00000277462:L97V;ENSP00000411378:L253V	ENSP00000277462:L97V	L	-	1	0	PTGES2	129925059	0.001000	0.12720	0.974000	0.42286	0.983000	0.72400	-1.501000	0.02281	-0.638000	0.05509	0.561000	0.74099	CTC		0.627	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			4	86	0	0	0	1	0	4	86				
GPRASP1	9737	broad.mit.edu	37	X	101910801	101910801	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:101910801A>T	ENST00000361600.5	+	5	2761	c.1960A>T	c.(1960-1962)Atg>Ttg	p.M654L	GPRASP1_ENST00000444152.1_Missense_Mutation_p.M654L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.M654L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.M654L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	654	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGGTCAGTATGAAGCATGG	0.478																																						uc010nod.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1960-1962)Atg>Ttg		Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.							131.0	121.0	124.0					X																	101910801		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910801A>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1960A>T	X.37:g.101910801A>T	ENSP00000355146:p.Met654Leu					ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.M654L|GPRASP1_uc004ejj.4_Missense_Mutation_p.M654L|GPRASP1_uc004eji.4_Missense_Mutation_p.M654L|GPRASP1_uc022cbd.1_Missense_Mutation_p.M654L	p.M654L	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN			2	2602	+			654			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1960A>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.419860	0.25552	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	2.92	-1.05	0.10036	.	.	.	.	.	T	0.08358	0.0208	L	0.43152	1.355	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.42481	-0.9449	9	0.19147	T	0.46	-5.0989	7.3746	0.26821	0.4469:0.0:0.5531:0.0	.	654	Q5JY77	GASP1_HUMAN	L	654	ENSP00000393691:M654L;ENSP00000409420:M654L;ENSP00000355146:M654L;ENSP00000445683:M654L	ENSP00000355146:M654L	M	+	1	0	GPRASP1	101797457	0.276000	0.24211	0.005000	0.12908	0.047000	0.14425	-0.238000	0.08977	-0.293000	0.08986	0.422000	0.28245	ATG		0.478	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		11	238	0	0	0	1	0	11	238				
LRRC4C	57689	broad.mit.edu	37	11	40137758	40137758	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr11:40137758C>T	ENST00000278198.2	-	2	2048	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	LRRC4C_ENST00000528697.1_Missense_Mutation_p.V29M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V29M|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V29M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	29					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCAGCAGCACCACAAGCAGG	0.498																																						uc001mxa.1																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(85-87)Gtg>Atg		Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.							71.0	69.0	70.0					11																	40137758		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137758C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.85G>A	11.37:g.40137758C>T	ENSP00000278198:p.Val29Met					LRRC4C_uc001mxc.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxd.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxb.1_Missense_Mutation_p.V25M|LRRC4C_uc021qgf.1_Missense_Mutation_p.V29M	p.V29M	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			1	2049	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	29					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.85G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577678	0.45902	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763;ENST00000533474	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.76	5.76	0.90799	.	0.071131	0.56097	D	0.000024	T	0.38904	0.1058	N	0.14661	0.345	0.36362	D	0.860747	B	0.31290	0.318	B	0.25405	0.06	T	0.49021	-0.8982	10	0.62326	D	0.03	.	18.9442	0.92615	0.0:1.0:0.0:0.0	.	29	Q9HCJ2	LRC4C_HUMAN	M	29	ENSP00000278198:V29M;ENSP00000436976:V29M;ENSP00000437132:V29M;ENSP00000434761:V29M	ENSP00000278198:V29M	V	-	1	0	LRRC4C	40094334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.272000	0.65559	2.719000	0.93026	0.650000	0.86243	GTG		0.498	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		12	37	0	0	0	1	0	12	37				
ZNF28	7576	broad.mit.edu	37	19	53303160	53303160	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53303160C>G	ENST00000457749.2	-	4	2057	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	ZNF28_ENST00000438150.2_Missense_Mutation_p.Q593H|ZNF28_ENST00000414252.2_Missense_Mutation_p.Q593H|ZNF28_ENST00000360272.4_Missense_Mutation_p.Q593H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGGATGACATCTGACTGAAGG	0.433																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1936-1938)caG>caC		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							199.0	188.0	192.0					19																	53303160		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303160C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1938G>C	19.37:g.53303160C>G	ENSP00000397693:p.Gln646His					ZNF28_uc002qac.3_Missense_Mutation_p.Q592H|ZNF28_uc010eqe.3_Missense_Mutation_p.Q592H|ZNF28_uc021uza.1_Missense_Mutation_p.Q593H	p.Q646H	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	2095	-			646					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1938G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.007	-2.009686	0.00426	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	1.81	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	N	0.02960	-0.455	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.22243	-1.0222	9	0.12103	T	0.63	.	2.4612	0.04541	0.1308:0.4448:0.2623:0.162	.	646	P17035	ZNF28_HUMAN	H	593;646;593;593	ENSP00000412143:Q593H;ENSP00000397693:Q646H;ENSP00000353410:Q593H;ENSP00000444965:Q593H	ENSP00000353410:Q593H	Q	-	3	2	ZNF28	57994972	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-10.817000	0.00005	-1.540000	0.01730	-1.341000	0.01249	CAG		0.433	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		15	354	0	0	0	1	0	15	354				
SETD2	29072	broad.mit.edu	37	3	47162712	47162712	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr3:47162712C>G	ENST00000409792.3	-	3	3456	c.3414G>C	c.(3412-3414)gaG>gaC	p.E1138D		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1138					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCGGATTCTTCTCTGTTCCTT	0.373			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqv.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0		p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(3379-3381)gaG>gaC		Homo sapiens SET domain containing 2 (SETD2), mRNA.							123.0	133.0	130.0					3																	47162712		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162712C>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3414G>C	3.37:g.47162712C>G	ENSP00000386759:p.Glu1138Asp					SETD2_uc003cqs.3_Missense_Mutation_p.E1138D	p.E1127D	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	2	3467	-		Acute lymphoblastic leukemia(5;0.0169)	1138					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.3381G>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736484	0.15574	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89415	-2.51;1.3	5.55	3.62	0.41486	.	0.099661	0.43919	D	0.000511	T	0.77751	0.4177	N	0.12182	0.205	0.27807	N	0.942261	B;B	0.14805	0.011;0.005	B;B	0.19946	0.027;0.007	T	0.67810	-0.5574	10	0.34782	T	0.22	.	9.9627	0.41706	0.2076:0.7193:0.0:0.0731	.	1138;1138	F2Z317;Q9BYW2	.;SETD2_HUMAN	D	1138;1138;1138;1094	ENSP00000386759:E1138D;ENSP00000416401:E1094D	ENSP00000386759:E1138D	E	-	3	2	SETD2	47137716	0.476000	0.25901	0.997000	0.53966	0.768000	0.43524	-0.383000	0.07398	1.567000	0.49668	0.655000	0.94253	GAG		0.373	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	220	0	0	0	1	0	12	220				
ZNF28	7576	broad.mit.edu	37	19	53304776	53304776	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304776C>G	ENST00000457749.2	-	4	441	c.322G>C	c.(322-324)Gac>Cac	p.D108H	ZNF28_ENST00000438150.2_Missense_Mutation_p.D55H|ZNF28_ENST00000414252.2_Missense_Mutation_p.D55H|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.D55H|ZNF28_ENST00000339844.6_3'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GCTGCATGGTCATTTGTTTCA	0.408																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(322-324)Gac>Cac		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							267.0	251.0	257.0					19																	53304776		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304776C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.322G>C	19.37:g.53304776C>G	ENSP00000397693:p.Asp108His					ZNF28_uc002qac.3_Missense_Mutation_p.D54H|ZNF28_uc010eqe.3_Missense_Mutation_p.D54H|ZNF28_uc021uza.1_Missense_Mutation_p.D55H	p.D108H	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	479	-			108					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.322G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.012	-1.652332	0.00785	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08008	3.14;3.25;3.14;3.14;3.18	1.81	-3.62	0.04543	.	.	.	.	.	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B	0.31790	0.34	B	0.30855	0.121	T	0.33828	-0.9853	9	0.16420	T	0.52	.	3.2709	0.06882	0.2845:0.3677:0.0:0.3478	.	108	P17035	ZNF28_HUMAN	H	55;108;55;55;55	ENSP00000412143:D55H;ENSP00000397693:D108H;ENSP00000353410:D55H;ENSP00000444965:D55H;ENSP00000375661:D55H	ENSP00000353410:D55H	D	-	1	0	ZNF28	57996588	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.519000	0.06260	-2.621000	0.00439	-0.708000	0.03648	GAC		0.408	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		12	442	0	0	0	1	0	12	442				
CTSL3P	392360	broad.mit.edu	37	9	90401768	90401768	+	RNA	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:90401768G>A	ENST00000354530.2	+	0	626					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										CATGACATGAGGAATCATCTG	0.498																																						uc004apm.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	15						c.(619-621)aGg>aAg		Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA.							189.0	153.0	165.0					9																	90401768		2203	4300	6503			392360							g.chr9:90401768G>A	AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90401768G>A							p.R207K							4	626	+									Missense_Mutation	SNP	ENST00000354530.2	37	c.620G>A																																																																																					0.498	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917		11	98	0	0	0	1	0	11	98				
DSP	1832	broad.mit.edu	37	6	7585761	7585761	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr6:7585761A>G	ENST00000379802.3	+	24	8607	c.8266A>G	c.(8266-8268)Ata>Gta	p.I2756V	DSP_ENST00000418664.2_Missense_Mutation_p.I2157V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2756	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGGGTTCATAGATGGCCG	0.537																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8266-8268)Ata>Gta		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							61.0	68.0	66.0					6																	7585761		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585761A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8266A>G	6.37:g.7585761A>G	ENSP00000369129:p.Ile2756Val					DSP_uc003mxq.1_Missense_Mutation_p.I2157V|DSP_uc021yle.1_Missense_Mutation_p.I2313V	p.I2756V	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	8545	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2756			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8266A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	2.316	-0.356658	0.05138	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.76709	-1.04;-1.04	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000005	T	0.80319	0.4601	L	0.53671	1.685	0.25457	N	0.987957	P;P	0.46656	0.485;0.882	P;D	0.68765	0.593;0.96	T	0.74355	-0.3692	10	0.37606	T	0.19	.	15.82	0.78633	1.0:0.0:0.0:0.0	.	2204;2756	Q4LE79;P15924	.;DESP_HUMAN	V	2756;2157	ENSP00000369129:I2756V;ENSP00000396591:I2157V	ENSP00000369129:I2756V	I	+	1	0	DSP	7530760	1.000000	0.71417	0.975000	0.42487	0.084000	0.17831	2.999000	0.49473	2.209000	0.71365	0.533000	0.62120	ATA		0.537	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	152	0	0	0	1	0	5	152				
SPARCL1	8404	broad.mit.edu	37	4	88415391	88415391	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr4:88415391A>T	ENST00000282470.6	-	4	1031	c.561T>A	c.(559-561)gaT>gaA	p.D187E	SPARCL1_ENST00000418378.1_Missense_Mutation_p.D187E|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D62E	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	187					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTTTCCTTGATCCCTTAGGC	0.398																																						uc010ikm.3																			0		p.R186M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(559-561)gaT>gaA		Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.							251.0	258.0	256.0					4																	88415391		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415391A>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.561T>A	4.37:g.88415391A>T	ENSP00000282470:p.Asp187Glu					SPARCL1_uc011cdc.2_Missense_Mutation_p.D62E|SPARCL1_uc003hqs.4_Missense_Mutation_p.D187E|SPARCL1_uc011cdd.2_Missense_Mutation_p.D62E	p.D187E	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	4	1133	-			187					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.561T>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	A	7.300	0.612912	0.14066	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.23552	2.48;2.48;1.9	4.95	-3.55	0.04639	.	1.223850	0.05506	N	0.559255	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.26155	-1.0111	10	0.02654	T	1	-3.0531	0.0986	0.00046	0.3601:0.1855:0.1895:0.265	.	187;187	Q8N4S1;Q14515	.;SPRL1_HUMAN	E	187;187;62;62	ENSP00000282470:D187E;ENSP00000414856:D187E;ENSP00000422903:D62E	ENSP00000282470:D187E	D	-	3	2	SPARCL1	88634415	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-0.470000	0.06639	-0.612000	0.05701	-0.408000	0.06270	GAT		0.398	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			8	577	0	0	0	1	0	8	577				
PTPRO	5800	broad.mit.edu	37	12	15636959	15636959	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:15636959T>C	ENST00000281171.4	+	2	457	c.127T>C	c.(127-129)Tca>Cca	p.S43P	PTPRO_ENST00000543886.1_Missense_Mutation_p.S43P|PTPRO_ENST00000348962.2_Missense_Mutation_p.S43P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	43					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCGTTGTCTCATTAGAAGC	0.348																																						uc001rcv.2																			0		p.S43S(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(127-129)Tca>Cca		Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.							93.0	93.0	93.0					12																	15636959		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15636959T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.127T>C	12.37:g.15636959T>C	ENSP00000281171:p.Ser43Pro					PTPRO_uc001rcw.2_Missense_Mutation_p.S43P|PTPRO_uc001rcu.2_Missense_Mutation_p.S43P	p.S43P	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			1	597	+		Hepatocellular(102;0.244)	43					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.127T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023107	0.75275	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04551	3.6;3.6	5.48	5.48	0.80851	Fibronectin, type III (1);	0.000000	0.51477	D	0.000100	T	0.12603	0.0306	L	0.27053	0.805	0.80722	D	1	D;D;D	0.67145	0.996;0.988;0.995	P;P;D	0.72982	0.857;0.723;0.979	T	0.04229	-1.0967	10	0.87932	D	0	.	15.5822	0.76452	0.0:0.0:0.0:1.0	.	43;43;43	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	P	43	ENSP00000281171:S43P;ENSP00000343434:S43P	ENSP00000281171:S43P	S	+	1	0	PTPRO	15528226	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	5.828000	0.69307	2.080000	0.62538	0.533000	0.62120	TCA		0.348	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			41	104	0	0	0	1	0	41	104				
ARSH	347527	broad.mit.edu	37	X	2947386	2947386	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:2947386C>G	ENST00000381130.2	+	8	1298	c.1298C>G	c.(1297-1299)aCg>aGg	p.T433R		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	433					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATCTGCACACGGTCAGGTGG	0.572																																						uc011mhj.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1297-1299)aCg>aGg		Homo sapiens arylsulfatase family, member H (ARSH), mRNA.							125.0	96.0	106.0					X																	2947386		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2947386C>G	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1298C>G	X.37:g.2947386C>G	ENSP00000370522:p.Thr433Arg						p.T433R	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			7	1298	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	433						Missense_Mutation	SNP	ENST00000381130.2	37	c.1298C>G	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440573	0.43326	.	.	ENSG00000205667	ENST00000381130	D	0.90261	-2.64	3.5	3.5	0.40072	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.214552	0.39475	U	0.001345	D	0.90628	0.7061	L	0.41124	1.26	0.28576	N	0.910362	P	0.42993	0.797	P	0.52454	0.699	D	0.86910	0.2060	10	0.66056	D	0.02	.	14.4689	0.67501	0.0:1.0:0.0:0.0	.	433	Q5FYA8	ARSH_HUMAN	R	433	ENSP00000370522:T433R	ENSP00000370522:T433R	T	+	2	0	ARSH	2957386	0.999000	0.42202	0.001000	0.08648	0.019000	0.09904	6.342000	0.72982	1.377000	0.46286	0.600000	0.82982	ACG		0.572	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		3	222	0	0	0	1	0	3	222				
UNC13D	201294	broad.mit.edu	37	17	73831849	73831849	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:73831849G>A	ENST00000207549.4	-	19	1985	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	UNC13D_ENST00000412096.2_Missense_Mutation_p.R536W	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	536	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTGCACCCGCTTGGCCACC	0.622									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1606-1608)Cgg>Tgg		Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.							73.0	78.0	77.0					17																	73831849		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831849G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1606C>T	17.37:g.73831849G>A	ENSP00000207549:p.Arg536Trp					UNC13D_uc010wsk.1_Missense_Mutation_p.R536W|UNC13D_uc002jpq.1_Missense_Mutation_p.R186W	p.R536W	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	1986	-			536			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1606C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713370	0.48517	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71222	-0.53;-0.55	4.81	-1.93	0.07594	.	0.475057	0.20803	N	0.085394	T	0.67059	0.2853	L	0.51422	1.61	0.33672	D	0.611012	D;D	0.71674	0.998;0.984	P;B	0.50970	0.655;0.42	T	0.72966	-0.4131	10	0.52906	T	0.07	-24.9033	9.9618	0.41701	0.0672:0.0:0.3373:0.5954	.	536;536	Q70J99-3;Q70J99	.;UN13D_HUMAN	W	536	ENSP00000207549:R536W;ENSP00000388093:R536W	ENSP00000207549:R536W	R	-	1	2	UNC13D	71343444	0.305000	0.24481	0.962000	0.40283	0.468000	0.32798	0.583000	0.23849	-0.224000	0.09928	0.561000	0.74099	CGG		0.622	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		4	164	0	0	0	1	0	4	164				
CYP2E1	1571	broad.mit.edu	37	10	135345689	135345689	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr10:135345689C>G	ENST00000463117.2	+	6	821	c.549C>G	c.(547-549)atC>atG	p.I183M	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.I183M			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	183					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TAGCCGACATCCTCTTCCGCA	0.522									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(547-549)atC>atG		Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						140.0	126.0	130.0					10																	135345689		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345689C>G	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.549C>G	10.37:g.135345689C>G	ENSP00000440689:p.Ile183Met					CYP2E1_uc001lnk.1_Missense_Mutation_p.I46M|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	p.I183M	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	3	582	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	183					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.549C>G	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581111	0.46006	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.59	2.69	0.31865	.	0.102744	0.64402	D	0.000003	T	0.71787	0.3381	L	0.37897	1.145	0.31294	N	0.689112	D	0.64830	0.994	D	0.91635	0.999	T	0.70226	-0.4930	10	0.87932	D	0	.	3.7861	0.08702	0.168:0.5797:0.1627:0.0896	.	183	P05181	CP2E1_HUMAN	M	183;183;96;46	ENSP00000440689:I183M;ENSP00000252945:I183M;ENSP00000412754:I96M;ENSP00000397299:I46M	ENSP00000252945:I183M	I	+	3	3	CYP2E1	135195679	0.950000	0.32346	0.999000	0.59377	0.428000	0.31595	-0.080000	0.11339	0.822000	0.34565	0.655000	0.94253	ATC		0.522	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		11	160	0	0	0	1	0	11	160				
DKK4	27121	broad.mit.edu	37	8	42231877	42231877	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr8:42231877C>A	ENST00000220812.2	-	4	602	c.416G>T	c.(415-417)gGa>gTa	p.G139V		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	139					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCCCTCTTGTCCTGTAACAAG	0.463																																						uc003xpb.3																			0				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						c.e4-1		Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.							66.0	65.0	65.0					8																	42231877		2203	4300	6503	SO:0001630	splice_region_variant	27121				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region		g.chr8:42231877C>A	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.416-1G>T	8.37:g.42231877C>A							p.G139_splice	NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	527	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	139					Q3KNX0|Q9Y4C3	Splice_Site	SNP	ENST00000220812.2	37	c.416_splice	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850588	0.71719	.	.	ENSG00000104371	ENST00000220812	T	0.41065	1.01	5.76	5.76	0.90799	.	0.103185	0.43260	D	0.000584	T	0.66713	0.2817	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.69555	-0.5114	10	0.87932	D	0	.	17.4796	0.87669	0.0:1.0:0.0:0.0	.	139	Q9UBT3	DKK4_HUMAN	V	139	ENSP00000220812:G139V	ENSP00000220812:G139V	G	-	2	0	DKK4	42351034	0.999000	0.42202	1.000000	0.80357	0.398000	0.30690	3.694000	0.54742	2.706000	0.92434	0.655000	0.94253	GGA		0.463	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1		Missense_Mutation	4	120	0	0	0	1	0	4	120				
EXOSC10	5394	broad.mit.edu	37	1	11129618	11129618	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:11129618G>A	ENST00000376936.4	-	22	2535	c.2486C>T	c.(2485-2487)gCt>gTt	p.A829V	EXOSC10_ENST00000304457.7_Missense_Mutation_p.A804V|RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	829					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTCCTCACCAGCAAAAGCCTT	0.502																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(2485-2487)gCt>gTt		Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.							289.0	306.0	300.0					1																	11129618		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity	g.chr1:11129618G>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2486C>T	1.37:g.11129618G>A	ENSP00000366135:p.Ala829Val					EXOSC10_uc001asb.3_Missense_Mutation_p.A804V	p.A829V	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	21	2536	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	829					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.2486C>T	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152714	0.78001	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.39	5.39	0.77823	.	0.156804	0.56097	D	0.000035	T	0.60958	0.2309	L	0.32530	0.975	0.80722	D	1	P;B	0.35033	0.481;0.051	B;B	0.42798	0.398;0.036	T	0.62115	-0.6922	9	0.49607	T	0.09	-6.2263	17.7533	0.88441	0.0:0.0:1.0:0.0	.	804;829	Q01780-2;Q01780	.;EXOSX_HUMAN	V	829;804	.	ENSP00000307307:A804V	A	-	2	0	EXOSC10	11052205	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.447000	0.80620	2.526000	0.85167	0.563000	0.77884	GCT		0.502	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		6	624	0	0	0	1	0	6	624				
CNOT6	57472	broad.mit.edu	37	5	179996203	179996203	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:179996203T>C	ENST00000393356.1	+	12	1545	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	CNOT6_ENST00000261951.4_Missense_Mutation_p.V374A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	374	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTGAAGTTGGTACAAACTATG	0.413																																						uc003mlx.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1120-1122)gTa>gCa		Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.							118.0	113.0	115.0					5																	179996203		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding	g.chr5:179996203T>C	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1121T>C	5.37:g.179996203T>C	ENSP00000377024:p.Val374Ala					CNOT6_uc010jld.3_Missense_Mutation_p.V374A|CNOT6_uc010jle.3_Missense_Mutation_p.V369A	p.V374A	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	9	1470	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	374					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.1121T>C	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031245	0.93575	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.79033	-1.23;-1.23	5.86	5.86	0.93980	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	N	0.20574	0.59	0.80722	D	1	P	0.50156	0.932	P	0.53313	0.723	T	0.73968	-0.3815	9	.	.	.	-14.3907	16.2605	0.82541	0.0:0.0:0.0:1.0	.	374	Q9ULM6	CNOT6_HUMAN	A	374	ENSP00000261951:V374A;ENSP00000377024:V374A	.	V	+	2	0	CNOT6	179928809	1.000000	0.71417	0.963000	0.40424	0.868000	0.49771	8.040000	0.89188	2.237000	0.73441	0.460000	0.39030	GTA		0.413	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		3	157	0	0	0	1	0	3	157				
BRCA2	675	broad.mit.edu	37	13	32953493	32953493	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr13:32953493C>T	ENST00000380152.3	+	22	9027	c.8794C>T	c.(8794-8796)Cac>Tac	p.H2932Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.H2932Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2932					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTGAATAATCACAGGCAAAT	0.363			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8794-8796)Cac>Tac	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							95.0	91.0	92.0					13																	32953493		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	g.chr13:32953493C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8794C>T	13.37:g.32953493C>T	ENSP00000369497:p.His2932Tyr	TCGA Ovarian(8;0.087)					p.H2932Y	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	21	9021	+		Lung SC(185;0.0262)	2932					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8794C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001906	0.35320	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.54675	0.56;0.56	5.6	4.74	0.60224	Nucleic acid-binding, OB-fold-like (1);	0.103307	0.64402	N	0.000002	T	0.37156	0.0993	N	0.26130	0.795	0.34960	D	0.752104	P	0.42409	0.779	B	0.37480	0.251	T	0.50389	-0.8834	10	0.30078	T	0.28	.	11.9964	0.53206	0.0:0.8541:0.0:0.1459	.	2932	P51587	BRCA2_HUMAN	Y	2932	ENSP00000369497:H2932Y;ENSP00000439902:H2932Y	ENSP00000369497:H2932Y	H	+	1	0	BRCA2	31851493	0.619000	0.27059	0.992000	0.48379	0.974000	0.67602	1.054000	0.30455	1.470000	0.48102	0.563000	0.77884	CAC		0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		9	73	0	0	0	1	0	9	73				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	71	0	0	0	1	0	33	71				
TUSC5	286753	broad.mit.edu	37	17	1198817	1198817	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:1198817C>T	ENST00000333813.3	+	2	759	c.420C>T	c.(418-420)gaC>gaT	p.D140D		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	140					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAACGTGGACGGCGCCCGGA	0.622																																						uc002fsi.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(418-420)gaC>gaT		Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.							99.0	115.0	110.0					17																	1198817		2090	4225	6315	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1198817C>T	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.420C>T	17.37:g.1198817C>T							p.D140D	NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	759	+			140					A6NMK4	Silent	SNP	ENST00000333813.3	37	c.420C>T	CCDS42225.1																																																																																				0.622	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		13	226	0	0	0	1	0	13	226				
TTC8	123016	broad.mit.edu	37	14	89319349	89319349	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:89319349C>G	ENST00000345383.5	+	7	713	c.629C>G	c.(628-630)tCt>tGt	p.S210C	TTC8_ENST00000380656.2_Missense_Mutation_p.S220C|TTC8_ENST00000358622.5_Missense_Mutation_p.S22C|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Missense_Mutation_p.S180C|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000338104.6_Missense_Mutation_p.S236C	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	246					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACAGAACATTCTCAGTACAAG	0.363																																						uc010ath.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(706-708)tCt>tGt		Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.							89.0	79.0	83.0					14																	89319349		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89319349C>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.629C>G	14.37:g.89319349C>G	ENSP00000339486:p.Ser210Cys					TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.S220C|TTC8_uc001xxj.3_Missense_Mutation_p.S210C|TTC8_uc001xxk.3_Missense_Mutation_p.S180C|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_Missense_Mutation_p.S22C|TTC8_uc010atj.3_Intron	p.S236C	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			7	841	+			246					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.707C>G	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.289165|2.289165	0.40494|0.40494	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000358622	.|T;T;T;T;T	.|0.78364	.|-1.16;-1.13;-1.17;-1.17;-1.12	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.232860	.|0.44902	.|D	.|0.000402	T|T	0.66771|0.66771	0.2823|0.2823	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.49961	.|0.93;0.0;0.002	.|P;B;B	.|0.47206	.|0.541;0.002;0.005	T|T	0.66148|0.66148	-0.5996|-0.5996	5|10	.|0.19590	.|T	.|0.45	-15.1555|-15.1555	18.9747|18.9747	0.92731|0.92731	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246;190;220	.|Q8TAM2;Q8TAM2-3;Q8TAM2-4	.|TTC8_HUMAN;.;.	V|C	170|210;180;236;220;22	.|ENSP00000339486:S210C;ENSP00000298324:S180C;ENSP00000337653:S236C;ENSP00000370031:S220C;ENSP00000351439:S22C	.|ENSP00000337653:S236C	L|S	+|+	1|2	0|0	TTC8|TTC8	88389102|88389102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.960000|6.960000	0.76036|0.76036	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.363	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		31	65	0	0	0	1	0	31	65				
CGN	57530	broad.mit.edu	37	1	151491515	151491515	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:151491515C>T	ENST00000271636.7	+	2	653	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	168	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGACACTGCTCCCCTGTCTTC	0.592																																						uc009wmw.3																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(520-522)Ccc>Tcc		Homo sapiens cingulin (CGN), mRNA.							82.0	85.0	84.0					1																	151491515		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491515C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.520C>T	1.37:g.151491515C>T	ENSP00000271636:p.Pro174Ser						p.P174S	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	664	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		168			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.520C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490402	0.64074	.	.	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.60920	1.59;0.15	4.93	4.93	0.64822	.	0.252195	0.40728	N	0.001026	T	0.40322	0.1112	L	0.31926	0.97	0.58432	D	0.999999	P	0.43750	0.816	B	0.43809	0.432	T	0.20240	-1.0281	9	.	.	.	-22.4433	17.2425	0.87017	0.0:1.0:0.0:0.0	.	168	Q9P2M7	CING_HUMAN	S	174	ENSP00000410836:P174S;ENSP00000271636:P174S	.	P	+	1	0	CGN	149758139	0.910000	0.30920	1.000000	0.80357	0.992000	0.81027	2.273000	0.43381	2.739000	0.93911	0.561000	0.74099	CCC		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		6	171	0	0	0	1	0	6	171				
NOD1	10392	broad.mit.edu	37	7	30491380	30491380	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:30491380C>A	ENST00000222823.4	-	6	2178	c.1653G>T	c.(1651-1653)gcG>gcT	p.A551A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	551					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGCTGCCCCCGCAGGGGGCA	0.622																																						uc003tav.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1651-1653)gcG>gcT		Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.							54.0	63.0	60.0					7																	30491380		2203	4300	6503	SO:0001819	synonymous_variant	10392				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491380C>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1653G>T	7.37:g.30491380C>A							p.A551A	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			5	2176	-			551					B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1653G>T	CCDS5427.1																																																																																				0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			4	177	0	0	0	1	0	4	177				
ERO1L	30001	broad.mit.edu	37	14	53150513	53150513	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:53150513T>C	ENST00000395686.3	-	2	450	c.227A>G	c.(226-228)tAt>tGt	p.Y76C		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	76					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					taCCTTGTAATACCTAAAGTA	0.259																																						uc001wzv.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(226-228)tAt>tGt		Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.							30.0	29.0	29.0					14																	53150513		2194	4294	6488	SO:0001583	missense	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53150513T>C	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.227A>G	14.37:g.53150513T>C	ENSP00000379042:p.Tyr76Cys						p.Y76C	NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN			1	447	-	Breast(41;0.226)		76					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	c.227A>G	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346956	0.61183	.	.	ENSG00000197930	ENST00000395686	T	0.54675	0.56	5.54	5.54	0.83059	.	0.059391	0.64402	D	0.000002	T	0.80138	0.4568	M	0.94142	3.5	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	D	0.86003	0.1496	10	0.87932	D	0	-24.3564	15.6262	0.76859	0.0:0.0:0.0:1.0	.	76	Q96HE7	ERO1A_HUMAN	C	76	ENSP00000379042:Y76C	ENSP00000379042:Y76C	Y	-	2	0	ERO1L	52220263	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.131000	0.57970	2.232000	0.73038	0.533000	0.62120	TAT		0.259	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		3	33	0	0	0	1	0	3	33				
